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New basal cell carcinoma susceptibility loci.

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Hum. Mol. Genet.-2014-Stacey-3 ...
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Authors
Stacey, Simon N
Helgason, Hannes
Gudjonsson, Sigurjon A
Thorleifsson, Gudmar
Zink, Florian
Sigurdsson, Asgeir
Kehr, Birte
Gudmundsson, Julius
Sulem, Patrick
Sigurgeirsson, Bardur
Benediktsdottir, Kristrun R
Thorisdottir, Kristin
Ragnarsson, Rafn
Fuentelsaz, Victoria
Corredera, Cristina
Gilaberte, Yolanda
Grasa, Matilde
Planelles, Dolores
Sanmartin, Onofre
Rudnai, Peter
Gurzau, Eugene
Koppova, Kvetoslava
Nexø, Bjørn A
Tjønneland, Anne
Overvad, Kim
Jonasson, Jon G
Tryggvadottir, Laufey
Johannsdottir, Hrefna
Kristinsdottir, Anna M
Stefansson, Hreinn
Masson, Gisli
Magnusson, Olafur T
Halldorsson, Bjarni V
Kong, Augustine
Rafnar, Thorunn
Thorsteinsdottir, Unnur
Vogel, Ulla
Kumar, Rajiv
Nagore, Eduardo
Mayordomo, José I
Gudbjartsson, Daniel F
Olafsson, Jon H
Stefansson, Kari
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Issue Date
2015

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Citation
Nat Commun. 2015, 6:6825
Abstract
In an ongoing screen for DNA sequence variants that confer risk of cutaneous basal cell carcinoma (BCC), we conduct a genome-wide association study (GWAS) of 24,988,228 SNPs and small indels detected through whole-genome sequencing of 2,636 Icelanders and imputed into 4,572 BCC patients and 266,358 controls. Here we show the discovery of four new BCC susceptibility loci: 2p24 MYCN (rs57244888[C], OR=0.76, P=4.7 × 10(-12)), 2q33 CASP8-ALS2CR12 (rs13014235[C], OR=1.15, P=1.5 × 10(-9)), 8q21 ZFHX4 (rs28727938[G], OR=0.70, P=3.5 × 10(-12)) and 10p14 GATA3 (rs73635312[A], OR=0.74, P=2.4 × 10(-16)). Fine mapping reveals that two variants correlated with rs73635312[A] occur in conserved binding sites for the GATA3 transcription factor. In addition, expression microarrays and RNA-seq show that rs13014235[C] and a related SNP rs700635[C] are associated with expression of CASP8 splice variants in which sequences from intron 8 are retained.
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To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files. This article is open access.
Additional Links
http://dx.doi.org/ 10.1038/ncomms7825
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4403348/
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Archived with thanks to Nature communications
ae974a485f413a2113503eed53cd6c53
10.1038/ncomms7825
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